38. Achondroplasia

Question 1

How does Achondroplasia present?

Answer 1

• Short stature
• 50% sit unsupported at 9m
• 50% walk alone by 18m

Question 2

What is a DDx for Achondroplasia?

Answer 2

Thanatophoric dwarfism = small ribcage, extremely short limbs and folds of extra skin on the arms and legs

Metatrophic dwarfism = long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis

Asphyxiating thoracic dysplasia = narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes

Question 3

How is Achondroplasia Mx?

Answer 3

Closely monitor body growth

Monitoring for potential complications

Recombinant human growth hormone (r-hGH or HGH)